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FLASH GENE
Symbol DNAH1 contributors: mct - updated : 22-01-2014
HGNC name dynein, axonemal, heavy polypeptide 1
HGNC id 2940
Corresponding disease
CILD37 ciliary dyskinesia, primary, 37
MMAFS multiple morphological anomalies of the flagella syndrome
Location 3p21.1      Physical location : 52.350.334 - 52.434.512
Synonym name
  • heat shock regulated 1
  • axonemal dynein, heavy chain
  • Synonym symbol(s) DNAHC1, HDHC7, HL-11, HL11, XLHSRF-1
    DNA
    TYPE functioning gene
    STRUCTURE 84.18 kb     78 Exon(s)
    MAPPING cloned Y linked N status provisional
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    78 - 13126 - 4265 - -
    EXPRESSION
    Type widely
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Endocrinethyroid   highly
    Lymphoid/Immunelymph node   highly
    Nervousnervecranial nerve  highly
    Reproductivemale systemtestis    Homo sapiens
    Respiratoryrespiratory tracttrachea   
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • N-terminal part of the protein binds to the intermediate, light-intermediate dynein chains
  • six AAA-ATPase domains (AAA 1 to 6)
  • microtubule-binding domain (MBT) lies between AAA4 and AAA5
  • HOMOLOGY
    interspecies homolog to murine Mdhc7
    Homologene
    FAMILY
    CATEGORY motor/contractile , transport
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm,cytoskeleton,microtubule
    basic FUNCTION
  • inner dynein arm heavy chain, having ATPase activity
  • involved in intracellular movement of organelles and vesicles or in the orientation of the mitotic spindle apparatus
  • axonemal dynein heavy chain
  • required in spermatozoa for the formation of the inner dynein arms and that its absence is deleterious for the organization and biogenesis of the axoneme
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS cellular trafficking transport
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
    cell & other interacting with microtubules
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) MMAFS , CILD37
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS
  • Mdhc7(-/-) mice is similar to that observed in some patients suffering from primary ciliary dyskinesia
  • Dnahc1 knockout (KO) mice (the ortholog of DNAH1), display asthenozoospermia and male infertility